Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41869132_41869162del | CA2695228823 | RPS19 | c.274_304del (p.Phe92GlyfsTer9) c.52_82del (p.Phe18GlyfsTer9) c.1112_1142del (n.1112_1142del) c.287_317del (p.Leu96ArgfsTer?) | |
19 | g.41869154_41869155dup | CA658656788 | RPS19 | c.296_297dup (p.Ala100TrpfsTer12) c.74_75dup (p.Ala26TrpfsTer12) c.1134_1135dup (n.1134_1135dup) c.309_310dup (p.Gly104ValfsTer?) | ClinVar dbSNP |
19 | g.41869154_41869155del | CA2580614906 | RPS19 | c.296_297del (p.Val99GlyfsTer?) c.74_75del (p.Val25GlyfsTer?) c.1134_1135del (n.1134_1135del) c.309_310del (p.Cys103TrpfsTer12) | ClinVar dbSNP |
19 | g.41869152_41869154delinsTGT | CA2336668901 | RPS19 | c.294_296delinsTGT (p.Ser98=) c.72_74delinsTGT (p.Ser24=) c.1132_1134delinsTGT (n.1132_1134delinsTGT) c.307_309delinsTGT (p.Cys103=) | |
19 | g.41869153G>A | CA406030488 | RPS19 | c.295G>A (p.Val99Met) c.73G>A (p.Val25Met) c.1133G>A (n.1133G>A) c.308G>A (p.Cys103Tyr) | |
19 | g.41869153G>C | CA406030489 | RPS19 | c.295G>C (p.Val99Leu) c.73G>C (p.Val25Leu) c.1133G>C (n.1133G>C) c.308G>C (p.Cys103Ser) | |
19 | g.41869153G>T | CA406030490 | RPS19 | c.295G>T (p.Val99Leu) c.73G>T (p.Val25Leu) c.1133G>T (n.1133G>T) c.308G>T (p.Cys103Phe) | |
19 | g.41869153_41869154delinsCAGCCGA | CA1139666470 | RPS19 | c.295_296delinsCAGCCGA (p.Val99GlnfsTer14) c.73_74delinsCAGCCGA (p.Val25GlnfsTer14) c.1133_1134delinsCAGCCGA (n.1133_1134delinsCAGCCGA) c.308_309delinsCAGCCGA (p.Cys103SerfsTer?) | ClinVar dbSNP |
19 | g.41869154T>A | CA406030493 | RPS19 | c.296T>A (p.Val99Glu) c.74T>A (p.Val25Glu) c.1134T>A (n.1134T>A) c.309T>A (p.Cys103Ter) | |
19 | g.41869154T>C | CA406030492 | RPS19 | c.296T>C (p.Val99Ala) c.74T>C (p.Val25Ala) c.1134T>C (n.1134T>C) c.309T>C (p.Cys103=) | |
19 | g.41869154T>G | CA406030491 | RPS19 | c.296T>G (p.Val99Gly) c.74T>G (p.Val25Gly) c.1134T>G (n.1134T>G) c.309T>G (p.Cys103Trp) | |
19 | g.41869155G>A | CA507576369 | RPS19 | c.297G>A (p.Val99=) c.75G>A (p.Val25=) c.1135G>A (n.1135G>A) c.310G>A (p.Gly104Ser) | |
19 | g.41869155G>C | CA507576368 | RPS19 | c.297G>C (p.Val99=) c.75G>C (p.Val25=) c.1135G>C (n.1135G>C) c.310G>C (p.Gly104Arg) | |
19 | g.41869155G>T | CA507576367 | RPS19 | c.297G>T (p.Val99=) c.75G>T (p.Val25=) c.1135G>T (n.1135G>T) c.310G>T (p.Gly104Cys) | |
19 | g.41869156G>A | CA406030494 | RPS19 | c.298G>A (p.Ala100Thr) c.76G>A (p.Ala26Thr) c.1136G>A (n.1136G>A) c.311G>A (p.Gly104Asp) | |
19 | g.41869156G>C | CA406030495 | RPS19 | c.298G>C (p.Ala100Pro) c.76G>C (p.Ala26Pro) c.1136G>C (n.1136G>C) c.311G>C (p.Gly104Ala) | |
19 | g.41869156G>T | CA406030496 | RPS19 | c.298G>T (p.Ala100Ser) c.76G>T (p.Ala26Ser) c.1136G>T (n.1136G>T) c.311G>T (p.Gly104Val) | |
19 | g.41869160_41869177del | CA2695228827 | RPS19 | c.302_319del (p.Arg101_Ala106del) c.80_97del (p.Arg27_Ala32del) c.1140_1157del (n.1140_1157del) c.315_332del (p.Pro106_Pro111del) | |
19 | g.41869157C>A | CA406030497 | RPS19 | c.299C>A (p.Ala100Asp) c.77C>A (p.Ala26Asp) c.1137C>A (n.1137C>A) c.312C>A (p.Gly104=) | |
19 | g.41869157C>G | CA406030498 | RPS19 | c.299C>G (p.Ala100Gly) c.77C>G (p.Ala26Gly) c.1137C>G (n.1137C>G) c.312C>G (p.Gly104=) | |
19 | g.41869157C>T | CA406030499 | RPS19 | c.299C>T (p.Ala100Val) c.77C>T (p.Ala26Val) c.1137C>T (n.1137C>T) c.312C>T (p.Gly104=) | |
19 | g.41869158C>A | CA507576370 | RPS19 | c.300C>A (p.Ala100=) c.78C>A (p.Ala26=) c.1138C>A (n.1138C>A) c.313C>A (p.Pro105Thr) | |
19 | g.41869158C>G | CA507576371 | RPS19 | c.300C>G (p.Ala100=) c.78C>G (p.Ala26=) c.1138C>G (n.1138C>G) c.313C>G (p.Pro105Ala) | |
19 | g.41869158C>T | CA507576372 | RPS19 | c.300C>T (p.Ala100=) c.78C>T (p.Ala26=) c.1138C>T (n.1138C>T) c.313C>T (p.Pro105Ser) | gnomAD v4 |
19 | g.41869159C>A | CA406030500 | RPS19 | c.301C>A (p.Arg101Ser) c.79C>A (p.Arg27Ser) c.1139C>A (n.1139C>A) c.314C>A (p.Pro105Gln) | |
19 | g.41869159C= | CA2336668902 | RPS19 | c.301C= (p.Arg101=) c.79C= (p.Arg27=) c.1139C= (n.1139C=) c.314C= (p.Pro105=) | |
19 | g.41869159C>G | CA406030501 | RPS19 | c.301C>G (p.Arg101Gly) c.79C>G (p.Arg27Gly) c.1139C>G (n.1139C>G) c.314C>G (p.Pro105Arg) | |
19 | g.41869159C>T | CA9465364 | RPS19 | c.301C>T (p.Arg101Cys) c.79C>T (p.Arg27Cys) c.1139C>T (n.1139C>T) c.314C>T (p.Pro105Leu) | ClinVar dbSNP ExAC gnomAD v2 |
19 | g.41869160G>A | CA406030502 | RPS19 | c.302G>A (p.Arg101His) c.80G>A (p.Arg27His) c.1140G>A (n.1140G>A) c.315G>A (p.Pro105=) | ClinVar dbSNP |
19 | g.41869160G>C | CA406030503 | RPS19 | c.302G>C (p.Arg101Pro) c.80G>C (p.Arg27Pro) c.1140G>C (n.1140G>C) c.315G>C (p.Pro105=) | ClinVar dbSNP |
19 | g.41869160G>T | CA406030504 | RPS19 | c.302G>T (p.Arg101Leu) c.80G>T (p.Arg27Leu) c.1140G>T (n.1140G>T) c.315G>T (p.Pro105=) | |
19 | g.41869161C>A | CA507576373 | RPS19 | c.303C>A (p.Arg101=) c.81C>A (p.Arg27=) c.1141C>A (n.1141C>A) c.316C>A (p.Pro106Thr) | |
19 | g.41869161C= | CA2336668903 | RPS19 | c.303C= (p.Arg101=) c.81C= (p.Arg27=) c.1141C= (n.1141C=) c.316C= (p.Pro106=) | |
19 | g.41869161C>G | CA507576374 | RPS19 | c.303C>G (p.Arg101=) c.81C>G (p.Arg27=) c.1141C>G (n.1141C>G) c.316C>G (p.Pro106Ala) | |
19 | g.41869161C>T | CA9465365 | RPS19 | c.303C>T (p.Arg101=) c.81C>T (p.Arg27=) c.1141C>T (n.1141C>T) c.316C>T (p.Pro106Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41869162del | CA2695228828 | RPS19 | c.304del (p.Arg102GlyfsTer9) c.82del (p.Arg28GlyfsTer9) c.1142del (n.1142del) c.317del (p.Pro106ArgfsTer?) | |
19 | g.41869162C>A | CA507576375 | RPS19 | c.304C>A (p.Arg102=) c.82C>A (p.Arg28=) c.1142C>A (n.1142C>A) c.317C>A (p.Pro106Gln) | |
19 | g.41869162C>G | CA406030506 | RPS19 | c.304C>G (p.Arg102Gly) c.82C>G (p.Arg28Gly) c.1142C>G (n.1142C>G) c.317C>G (p.Pro106Arg) | |
19 | g.41869162C>T | CA406030505 | RPS19 | c.304C>T (p.Arg102Trp) c.82C>T (p.Arg28Trp) c.1142C>T (n.1142C>T) c.317C>T (p.Pro106Leu) | gnomAD v4 |
19 | g.41869162_41869163delinsCG | CA2336668904 | RPS19 | c.304_305delinsCG (p.Arg102=) c.82_83delinsCG (p.Arg28=) c.1142_1143delinsCG (n.1142_1143delinsCG) c.317_318delinsCG (p.Pro106=) | |
19 | g.41869163G>A | CA9465366 | RPS19 | c.305G>A (p.Arg102Gln) c.83G>A (p.Arg28Gln) c.1143G>A (n.1143G>A) c.318G>A (p.Pro106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41869163G>C | CA406030507 | RPS19 | c.305G>C (p.Arg102Pro) c.83G>C (p.Arg28Pro) c.1143G>C (n.1143G>C) c.318G>C (p.Pro106=) | |
19 | g.41869163G= | CA2336668905 | RPS19 | c.305G= (p.Arg102=) c.83G= (p.Arg28=) c.1143G= (n.1143G=) c.318G= (p.Pro106=) | |
19 | g.41869163G>T | CA406030508 | RPS19 | c.305G>T (p.Arg102Leu) c.83G>T (p.Arg28Leu) c.1143G>T (n.1143G>T) c.318G>T (p.Pro106=) | |
19 | g.41869165del | CA130768 | RPS19 | c.307del (p.Val103SerfsTer8) c.85del (p.Val29SerfsTer8) c.1145del (n.1145del) c.320del (p.Gly107ValfsTer?) | ClinVar dbSNP |
19 | g.41869164G>A | CA507576376 | RPS19 | c.306G>A (p.Arg102=) c.84G>A (p.Arg28=) c.1144G>A (n.1144G>A) c.319G>A (p.Gly107Ser) | |
19 | g.41869164G>C | CA507576377 | RPS19 | c.306G>C (p.Arg102=) c.84G>C (p.Arg28=) c.1144G>C (n.1144G>C) c.319G>C (p.Gly107Arg) | |
19 | g.41869164G>T | CA507576378 | RPS19 | c.306G>T (p.Arg102=) c.84G>T (p.Arg28=) c.1144G>T (n.1144G>T) c.319G>T (p.Gly107Cys) | |
19 | g.41869165G>A | CA406030510 | RPS19 | c.307G>A (p.Val103Ile) c.85G>A (p.Val29Ile) c.1145G>A (n.1145G>A) c.320G>A (p.Gly107Asp) | COSMIC |
19 | g.41869165G>C | CA406030511 | RPS19 | c.307G>C (p.Val103Leu) c.85G>C (p.Val29Leu) c.1145G>C (n.1145G>C) c.320G>C (p.Gly107Ala) | |
19 | g.41869165G>T | CA406030512 | RPS19 | c.307G>T (p.Val103Phe) c.85G>T (p.Val29Phe) c.1145G>T (n.1145G>T) c.320G>T (p.Gly107Val) | |
19 | g.41869166T>A | CA406030513 | RPS19 | c.308T>A (p.Val103Asp) c.86T>A (p.Val29Asp) c.1146T>A (n.1146T>A) c.321T>A (p.Gly107=) | ClinVar dbSNP |
19 | g.41869166T>C | CA406030514 | RPS19 | c.308T>C (p.Val103Ala) c.86T>C (p.Val29Ala) c.1146T>C (n.1146T>C) c.321T>C (p.Gly107=) | |
19 | g.41869166T>G | CA406030515 | RPS19 | c.308T>G (p.Val103Gly) c.86T>G (p.Val29Gly) c.1146T>G (n.1146T>G) c.321T>G (p.Gly107=) | dbSNP |
19 | g.41869166T= | CA2336668906 | RPS19 | c.308T= (p.Val103=) c.86T= (p.Val29=) c.1146T= (n.1146T=) c.321T= (p.Gly107=) | |
19 | g.41869167C>A | CA507576379 | RPS19 | c.309C>A (p.Val103=) c.87C>A (p.Val29=) c.1147C>A (n.1147C>A) c.322C>A (p.Pro108Thr) | |
19 | g.41869167C= | CA2336668907 | RPS19 | c.309C= (p.Val103=) c.87C= (p.Val29=) c.1147C= (n.1147C=) c.322C= (p.Pro108=) | |
19 | g.41869167C>G | CA507576380 | RPS19 | c.309C>G (p.Val103=) c.87C>G (p.Val29=) c.1147C>G (n.1147C>G) c.322C>G (p.Pro108Ala) | |
19 | g.41869167C>T | CA507576381 | RPS19 | c.309C>T (p.Val103=) c.87C>T (p.Val29=) c.1147C>T (n.1147C>T) c.322C>T (p.Pro108Ser) | dbSNP gnomAD v4 COSMIC |
19 | g.41869168C>A | CA406030516 | RPS19 | c.310C>A (p.Leu104Ile) c.88C>A (p.Leu30Ile) c.1148C>A (n.1148C>A) c.323C>A (p.Pro108His) | COSMIC |
19 | g.41869168C>G | CA406030517 | RPS19 | c.310C>G (p.Leu104Val) c.88C>G (p.Leu30Val) c.1148C>G (n.1148C>G) c.323C>G (p.Pro108Arg) | gnomAD v4 |
19 | g.41869168C>T | CA406030518 | RPS19 | c.310C>T (p.Leu104Phe) c.88C>T (p.Leu30Phe) c.1148C>T (n.1148C>T) c.323C>T (p.Pro108Leu) | |
19 | g.41869169T>A | CA406030521 | RPS19 | c.311T>A (p.Leu104His) c.89T>A (p.Leu30His) c.1149T>A (n.1149T>A) c.324T>A (p.Pro108=) | |
19 | g.41869169T>C | CA406030520 | RPS19 | c.311T>C (p.Leu104Pro) c.89T>C (p.Leu30Pro) c.1149T>C (n.1149T>C) c.324T>C (p.Pro108=) | |
19 | g.41869169T>G | CA406030519 | RPS19 | c.311T>G (p.Leu104Arg) c.89T>G (p.Leu30Arg) c.1149T>G (n.1149T>G) c.324T>G (p.Pro108=) | |
19 | g.41869170C>A | CA507576384 | RPS19 | c.312C>A (p.Leu104=) c.90C>A (p.Leu30=) c.1150C>A (n.1150C>A) c.325C>A (p.Pro109Thr) | |
19 | g.41869170C= | CA2336668908 | RPS19 | c.312C= (p.Leu104=) c.90C= (p.Leu30=) c.1150C= (n.1150C=) c.325C= (p.Pro109=) | |
19 | g.41869170C>G | CA507576382 | RPS19 | c.312C>G (p.Leu104=) c.90C>G (p.Leu30=) c.1150C>G (n.1150C>G) c.325C>G (p.Pro109Ala) | |
19 | g.41869170C>T | CA507576383 | RPS19 | c.312C>T (p.Leu104=) c.90C>T (p.Leu30=) c.1150C>T (n.1150C>T) c.325C>T (p.Pro109Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41869171C>A | CA406030522 | RPS19 | c.313C>A (p.Gln105Lys) c.91C>A (p.Gln31Lys) c.1151C>A (n.1151C>A) c.326C>A (p.Pro109Gln) | gnomAD v4 |
19 | g.41869171C>G | CA406030524 | RPS19 | c.313C>G (p.Gln105Glu) c.91C>G (p.Gln31Glu) c.1151C>G (n.1151C>G) c.326C>G (p.Pro109Arg) | |
19 | g.41869171C>T | CA406030523 | RPS19 | c.313C>T (p.Gln105Ter) c.91C>T (p.Gln31Ter) c.1151C>T (n.1151C>T) c.326C>T (p.Pro109Leu) | |
19 | g.41869172A= | CA2336668909 | RPS19 | c.314A= (p.Gln105=) c.92A= (p.Gln31=) c.1152A= (n.1152A=) c.327A= (p.Pro109=) | |
19 | g.41869172A>C | CA406030525 | RPS19 | c.314A>C (p.Gln105Pro) c.92A>C (p.Gln31Pro) c.1152A>C (n.1152A>C) c.327A>C (p.Pro109=) | |
19 | g.41869172A>G | CA9465367 | RPS19 | c.314A>G (p.Gln105Arg) c.92A>G (p.Gln31Arg) c.1152A>G (n.1152A>G) c.327A>G (p.Pro109=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41869172A>T | CA406030526 | RPS19 | c.314A>T (p.Gln105Leu) c.92A>T (p.Gln31Leu) c.1152A>T (n.1152A>T) c.327A>T (p.Pro109=) | |
19 | g.41869173A>C | CA406030527 | RPS19 | c.315A>C (p.Gln105His) c.93A>C (p.Gln31His) c.1153A>C (n.1153A>C) c.328A>C (p.Ser110Arg) | |
19 | g.41869173A>G | CA507576385 | RPS19 | c.315A>G (p.Gln105=) c.93A>G (p.Gln31=) c.1153A>G (n.1153A>G) c.328A>G (p.Ser110Gly) | |
19 | g.41869173A>T | CA406030528 | RPS19 | c.315A>T (p.Gln105His) c.93A>T (p.Gln31His) c.1153A>T (n.1153A>T) c.328A>T (p.Ser110Cys) | |
19 | g.41869174del | CA2573332762 | RPS19 | c.316del (p.Ala106ProfsTer5) c.94del (p.Ala32ProfsTer5) c.1154del (n.1154del) c.329del (p.Ser110ThrfsTer?) | ClinVar |
19 | g.41869174G>A | CA9465368 | RPS19 | c.316G>A (p.Ala106Thr) c.94G>A (p.Ala32Thr) c.1154G>A (n.1154G>A) c.329G>A (p.Ser110Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41869174G>C | CA406030529 | RPS19 | c.316G>C (p.Ala106Pro) c.94G>C (p.Ala32Pro) c.1154G>C (n.1154G>C) c.329G>C (p.Ser110Thr) | |
19 | g.41869174G= | CA2336668910 | RPS19 | c.316G= (p.Ala106=) c.94G= (p.Ala32=) c.1154G= (n.1154G=) c.329G= (p.Ser110=) | |
19 | g.41869174G>T | CA406030530 | RPS19 | c.316G>T (p.Ala106Ser) c.94G>T (p.Ala32Ser) c.1154G>T (n.1154G>T) c.329G>T (p.Ser110Ile) | |
19 | g.41869175C>A | CA406030531 | RPS19 | c.317C>A (p.Ala106Asp) c.95C>A (p.Ala32Asp) c.1155C>A (n.1155C>A) c.330C>A (p.Ser110Arg) | |
19 | g.41869175C= | CA2336668911 | RPS19 | c.317C= (p.Ala106=) c.95C= (p.Ala32=) c.1155C= (n.1155C=) c.330C= (p.Ser110=) | |
19 | g.41869175C>G | CA406030532 | RPS19 | c.317C>G (p.Ala106Gly) c.95C>G (p.Ala32Gly) c.1155C>G (n.1155C>G) c.330C>G (p.Ser110Arg) | |
19 | g.41869175C>T | CA406030533 | RPS19 | c.317C>T (p.Ala106Val) c.95C>T (p.Ala32Val) c.1155C>T (n.1155C>T) c.330C>T (p.Ser110=) | ClinVar dbSNP gnomAD v4 |
19 | g.41869176C>A | CA507576386 | RPS19 | c.318C>A (p.Ala106=) c.96C>A (p.Ala32=) c.1156C>A (n.1156C>A) c.331C>A (p.Pro111Thr) | |
19 | g.41869176C>G | CA507576388 | RPS19 | c.318C>G (p.Ala106=) c.96C>G (p.Ala32=) c.1156C>G (n.1156C>G) c.331C>G (p.Pro111Ala) | |
19 | g.41869176C>T | CA507576387 | RPS19 | c.318C>T (p.Ala106=) c.96C>T (p.Ala32=) c.1156C>T (n.1156C>T) c.331C>T (p.Pro111Ser) | gnomAD v4 |
19 | g.41869177C>A | CA406030534 | RPS19 | c.319C>A (p.Leu107Met) c.97C>A (p.Leu33Met) c.1157C>A (n.1157C>A) c.332C>A (p.Pro111His) | |
19 | g.41869177C= | CA2336668912 | RPS19 | c.319C= (p.Leu107=) c.97C= (p.Leu33=) c.1157C= (n.1157C=) c.332C= (p.Pro111=) | |
19 | g.41869177C>G | CA406030535 | RPS19 | c.319C>G (p.Leu107Val) c.97C>G (p.Leu33Val) c.1157C>G (n.1157C>G) c.332C>G (p.Pro111Arg) | |
19 | g.41869177C>T | CA507576389 | RPS19 | c.319C>T (p.Leu107=) c.97C>T (p.Leu33=) c.1157C>T (n.1157C>T) c.332C>T (p.Pro111Leu) | dbSNP |
19 | g.41869178T>A | CA406030538 | RPS19 | c.320T>A (p.Leu107Gln) c.98T>A (p.Leu33Gln) c.1158T>A (n.1158T>A) c.333T>A (p.Pro111=) | |
19 | g.41869178T>C | CA406030536 | RPS19 | c.320T>C (p.Leu107Pro) c.98T>C (p.Leu33Pro) c.1158T>C (n.1158T>C) c.333T>C (p.Pro111=) | ClinVar |
19 | g.41869178T>G | CA406030537 | RPS19 | c.320T>G (p.Leu107Arg) c.98T>G (p.Leu33Arg) c.1158T>G (n.1158T>G) c.333T>G (p.Pro111=) | |
19 | g.41869179G>A | CA507576390 | RPS19 | c.321G>A (p.Leu107=) c.99G>A (p.Leu33=) c.1159G>A (n.1159G>A) c.334G>A (p.Gly112Arg) | |
19 | g.41869179G>C | CA507576391 | RPS19 | c.321G>C (p.Leu107=) c.99G>C (p.Leu33=) c.1159G>C (n.1159G>C) c.334G>C (p.Gly112Arg) | |
19 | g.41869179G>T | CA507576392 | RPS19 | c.321G>T (p.Leu107=) c.99G>T (p.Leu33=) c.1159G>T (n.1159G>T) c.334G>T (p.Gly112Ter) | |
19 | g.41869180G>A | CA406030539 | RPS19 | c.322G>A (p.Glu108Lys) c.100G>A (p.Glu34Lys) c.1160G>A (n.1160G>A) c.335G>A (p.Gly112Glu) | |
19 | g.41869180G>C | CA406030540 | RPS19 | c.322G>C (p.Glu108Gln) c.100G>C (p.Glu34Gln) c.1160G>C (n.1160G>C) c.335G>C (p.Gly112Ala) | |
19 | g.41869180G>T | CA406030541 | RPS19 | c.322G>T (p.Glu108Ter) c.100G>T (p.Glu34Ter) c.1160G>T (n.1160G>T) c.335G>T (p.Gly112Val) | |
19 | g.41869181A>C | CA406030542 | RPS19 | c.323A>C (p.Glu108Ala) c.101A>C (p.Glu34Ala) c.1161A>C (n.1161A>C) c.336A>C (p.Gly112=) | |
19 | g.41869181A>G | CA406030543 | RPS19 | c.323A>G (p.Glu108Gly) c.101A>G (p.Glu34Gly) c.1161A>G (n.1161A>G) c.336A>G (p.Gly112=) | |
19 | g.41869181A>T | CA406030544 | RPS19 | c.323A>T (p.Glu108Val) c.101A>T (p.Glu34Val) c.1161A>T (n.1161A>T) c.336A>T (p.Gly112=) | |
19 | g.41869182G>A | CA9465369 | RPS19 | c.324G>A (p.Glu108=) c.102G>A (p.Glu34=) c.1162G>A (n.1162G>A) c.337G>A (p.Gly113Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41869182G>C | CA406030545 | RPS19 | c.324G>C (p.Glu108Asp) c.102G>C (p.Glu34Asp) c.1162G>C (n.1162G>C) c.337G>C (p.Gly113Arg) | |
19 | g.41869182G= | CA2336668913 | RPS19 | c.324G= (p.Glu108=) c.102G= (p.Glu34=) c.1162G= (n.1162G=) c.337G= (p.Gly113=) | |
19 | g.41869182G>T | CA406030546 | RPS19 | c.324G>T (p.Glu108Asp) c.102G>T (p.Glu34Asp) c.1162G>T (n.1162G>T) c.337G>T (p.Gly113Trp) | |
19 | g.41869183G>A | CA406030547 | RPS19 | c.325G>A (p.Gly109Arg) c.103G>A (p.Gly35Arg) c.1163G>A (n.1163G>A) c.338G>A (p.Gly113Glu) | |
19 | g.41869183G>C | CA406030548 | RPS19 | c.325G>C (p.Gly109Arg) c.103G>C (p.Gly35Arg) c.1163G>C (n.1163G>C) c.338G>C (p.Gly113Ala) | |
19 | g.41869183G>T | CA406030549 | RPS19 | c.325G>T (p.Gly109Trp) c.103G>T (p.Gly35Trp) c.1163G>T (n.1163G>T) c.338G>T (p.Gly113Val) | |
19 | g.41869184G>A | CA406030550 | RPS19 | c.326G>A (p.Gly109Glu) c.104G>A (p.Gly35Glu) c.1164G>A (n.1164G>A) c.339G>A (p.Gly113=) | |
19 | g.41869184G>C | CA406030552 | RPS19 | c.326G>C (p.Gly109Ala) c.104G>C (p.Gly35Ala) c.1164G>C (n.1164G>C) c.339G>C (p.Gly113=) | |
19 | g.41869184G>T | CA406030551 | RPS19 | c.326G>T (p.Gly109Val) c.104G>T (p.Gly35Val) c.1164G>T (n.1164G>T) c.339G>T (p.Gly113=) | |
19 | g.41869185G>A | CA507576393 | RPS19 | c.327G>A (p.Gly109=) c.105G>A (p.Gly35=) c.1165G>A (n.1165G>A) c.340G>A (p.Ala114Thr) | |
19 | g.41869185G>C | CA507576394 | RPS19 | c.327G>C (p.Gly109=) c.105G>C (p.Gly35=) c.1165G>C (n.1165G>C) c.340G>C (p.Ala114Pro) | |
19 | g.41869185G= | CA2336668914 | RPS19 | c.327G= (p.Gly109=) c.105G= (p.Gly35=) c.1165G= (n.1165G=) c.340G= (p.Ala114=) | |
19 | g.41869185G>T | CA507576395 | RPS19 | c.327G>T (p.Gly109=) c.105G>T (p.Gly35=) c.1165G>T (n.1165G>T) c.340G>T (p.Ala114Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41869186del | CA2695228829 | RPS19 | c.328del (p.Leu110Ter) c.106del (p.Leu36Ter) c.1166del (n.1166del) c.341del (p.Ala114ValfsTer?) | |
19 | g.41869186C>A | CA406030553 | RPS19 | c.328C>A (p.Leu110Met) c.106C>A (p.Leu36Met) c.1166C>A (n.1166C>A) c.341C>A (p.Ala114Asp) | |
19 | g.41869186C= | CA2336668915 | RPS19 | c.328C= (p.Leu110=) c.106C= (p.Leu36=) c.1166C= (n.1166C=) c.341C= (p.Ala114=) | |
19 | g.41869186C>G | CA406030554 | RPS19 | c.328C>G (p.Leu110Val) c.106C>G (p.Leu36Val) c.1166C>G (n.1166C>G) c.341C>G (p.Ala114Gly) | ClinVar |
19 | g.41869186C>T | CA507576396 | RPS19 | c.328C>T (p.Leu110=) c.106C>T (p.Leu36=) c.1166C>T (n.1166C>T) c.341C>T (p.Ala114Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41869187T>A | CA406030555 | RPS19 | c.329T>A (p.Leu110Gln) c.107T>A (p.Leu36Gln) c.1167T>A (n.1167T>A) c.342T>A (p.Ala114=) | |
19 | g.41869187T>C | CA406030556 | RPS19 | c.329T>C (p.Leu110Pro) c.107T>C (p.Leu36Pro) c.1167T>C (n.1167T>C) c.342T>C (p.Ala114=) | |
19 | g.41869187T>G | CA406030557 | RPS19 | c.329T>G (p.Leu110Arg) c.107T>G (p.Leu36Arg) c.1167T>G (n.1167T>G) c.342T>G (p.Ala114=) | |
19 | g.41869188G>A | CA507576397 | RPS19 | c.330G>A (p.Leu110=) c.108G>A (p.Leu36=) c.1168G>A (n.1168G>A) c.343G>A (p.Glu115Lys) | ClinVar dbSNP |
19 | g.41869188G>C | CA507576398 | RPS19 | c.330G>C (p.Leu110=) c.108G>C (p.Leu36=) c.1168G>C (n.1168G>C) c.343G>C (p.Glu115Gln) | |
19 | g.41869188G>T | CA507576399 | RPS19 | c.330G>T (p.Leu110=) c.108G>T (p.Leu36=) c.1168G>T (n.1168G>T) c.343G>T (p.Glu115Ter) | |
19 | g.41869189A>C | CA406030558 | RPS19 | c.331A>C (p.Lys111Gln) c.109A>C (p.Lys37Gln) c.1169A>C (n.1169A>C) c.344A>C (p.Glu115Ala) | gnomAD v4 |
19 | g.41869189A>G | CA406030559 | RPS19 | c.331A>G (p.Lys111Glu) c.109A>G (p.Lys37Glu) c.1169A>G (n.1169A>G) c.344A>G (p.Glu115Gly) | |
19 | g.41869189A>T | CA406030560 | RPS19 | c.331A>T (p.Lys111Ter) c.109A>T (p.Lys37Ter) c.1169A>T (n.1169A>T) c.344A>T (p.Glu115Val) | |
19 | g.41869192dup | CA2695228830 | RPS19 | c.334dup (p.Met112AsnfsTer?) c.112dup (p.Met38AsnfsTer?) c.347dup (p.Asn116LysfsTer13) | |
19 | g.41869190A>C | CA406030561 | RPS19 | c.332A>C (p.Lys111Thr) c.110A>C (p.Lys37Thr) c.1170A>C (n.1170A>C) c.345A>C (p.Glu115Asp) | gnomAD v4 |
19 | g.41869190A>G | CA406030562 | RPS19 | c.332A>G (p.Lys111Arg) c.110A>G (p.Lys37Arg) c.1170A>G (n.1170A>G) c.345A>G (p.Glu115=) | |
19 | g.41869190A>T | CA406030563 | RPS19 | c.332A>T (p.Lys111Ile) c.110A>T (p.Lys37Ile) c.1170A>T (n.1170A>T) c.345A>T (p.Glu115Asp) | |
19 | g.41869191A= | CA2336668916 | RPS19 | c.333A= (p.Lys111=) c.111A= (p.Lys37=) c.1171A= (n.1171A=) c.346A= (p.Asn116=) | |
19 | g.41869191A>C | CA406030565 | RPS19 | c.333A>C (p.Lys111Asn) c.111A>C (p.Lys37Asn) c.1171A>C (n.1171A>C) c.346A>C (p.Asn116His) | |
19 | g.41869191A>G | CA9465370 | RPS19 | c.333A>G (p.Lys111=) c.111A>G (p.Lys37=) c.1171A>G (n.1171A>G) c.346A>G (p.Asn116Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41869191A>T | CA406030564 | RPS19 | c.333A>T (p.Lys111Asn) c.111A>T (p.Lys37Asn) c.1171A>T (n.1171A>T) c.346A>T (p.Asn116Tyr) | |
19 | g.41869192A>C | CA406030566 | RPS19 | c.334A>C (p.Met112Leu) c.112A>C (p.Met38Leu) c.1172A>C (n.1172A>C) c.347A>C (p.Asn116Thr) | |
19 | g.41869192A>G | CA406030567 | RPS19 | c.334A>G (p.Met112Val) c.112A>G (p.Met38Val) c.1172A>G (n.1172A>G) c.347A>G (p.Asn116Ser) | |
19 | g.41869192A>T | CA406030569 | RPS19 | c.334A>T (p.Met112Leu) c.112A>T (p.Met38Leu) c.1172A>T (n.1172A>T) c.347A>T (p.Asn116Ile) | |
19 | g.41869192_41869195delinsATGG | CA2336668917 | RPS19 | c.334_337delinsATGG (p.Met112=) c.112_115delinsATGG (p.Met38=) c.347_350delinsATGG (p.Asn116=) | |
19 | g.41869193T>A | CA406030570 | RPS19 | c.335T>A (p.Met112Lys) c.113T>A (p.Met38Lys) c.348T>A (p.Asn116Lys) | |
19 | g.41869193T>C | CA406030571 | RPS19 | c.335T>C (p.Met112Thr) c.113T>C (p.Met38Thr) c.348T>C (p.Asn116=) | |
19 | g.41869193T>G | CA406030572 | RPS19 | c.335T>G (p.Met112Arg) c.113T>G (p.Met38Arg) c.348T>G (p.Asn116Lys) | |
19 | g.41869196_41869198del | CA16620855 | RPS19 | c.338_340del (p.Val113del) c.116_118del (p.Val39del) c.351_353del (p.Gly118del) | ClinVar dbSNP |
19 | g.41869194G>A | CA406030573 | RPS19 | c.336G>A (p.Met112Ile) c.114G>A (p.Met38Ile) c.349G>A (p.Gly117Ser) | gnomAD v4 |
19 | g.41869194G>C | CA406030574 | RPS19 | c.336G>C (p.Met112Ile) c.114G>C (p.Met38Ile) c.349G>C (p.Gly117Arg) | |
19 | g.41869194G>T | CA406030575 | RPS19 | c.336G>T (p.Met112Ile) c.114G>T (p.Met38Ile) c.349G>T (p.Gly117Cys) | gnomAD v4 |
19 | g.41869195del | CA2814447565 | RPS19 | c.337del (p.Val113TrpfsTer11) c.115del (p.Val39TrpfsTer11) c.350del (p.Gly117ValfsTer?) | |
19 | g.41869195G>A | CA406030576 | RPS19 | c.337G>A (p.Val113Met) c.115G>A (p.Val39Met) c.350G>A (p.Gly117Asp) | dbSNP |
19 | g.41869195G>C | CA406030577 | RPS19 | c.337G>C (p.Val113Leu) c.115G>C (p.Val39Leu) c.350G>C (p.Gly117Ala) | |
19 | g.41869195G= | CA2336668918 | RPS19 | c.337G= (p.Val113=) c.115G= (p.Val39=) c.350G= (p.Gly117=) | |
19 | g.41869195G>T | CA406030578 | RPS19 | c.337G>T (p.Val113Leu) c.115G>T (p.Val39Leu) c.350G>T (p.Gly117Val) | |
19 | g.41869196T>A | CA406030580 | RPS19 | c.338T>A (p.Val113Glu) c.116T>A (p.Val39Glu) c.351T>A (p.Gly117=) | |
19 | g.41869196T>C | CA406030582 | RPS19 | c.338T>C (p.Val113Ala) c.116T>C (p.Val39Ala) c.351T>C (p.Gly117=) | |
19 | g.41869196T>G | CA406030579 | RPS19 | c.338T>G (p.Val113Gly) c.116T>G (p.Val39Gly) c.351T>G (p.Gly117=) | dbSNP |
19 | g.41869196T= | CA2336668919 | RPS19 | c.338T= (p.Val113=) c.116T= (p.Val39=) c.351T= (p.Gly117=) | |
19 | g.41869197G>A | CA507576400 | RPS19 | c.339G>A (p.Val113=) c.117G>A (p.Val39=) c.352G>A (p.Gly118Arg) | gnomAD v4 |
19 | g.41869197G>C | CA507576401 | RPS19 | c.339G>C (p.Val113=) c.117G>C (p.Val39=) c.352G>C (p.Gly118Arg) | |
19 | g.41869197G>T | CA507576402 | RPS19 | c.339G>T (p.Val113=) c.117G>T (p.Val39=) c.352G>T (p.Gly118Ter) | |
19 | g.41869198G>A | CA406030585 | RPS19 | c.340G>A (p.Glu114Lys) c.118G>A (p.Glu40Lys) c.353G>A (p.Gly118Glu) | |
19 | g.41869198G>C | CA406030583 | RPS19 | c.340G>C (p.Glu114Gln) c.118G>C (p.Glu40Gln) c.353G>C (p.Gly118Ala) | |
19 | g.41869198G>T | CA406030584 | RPS19 | c.340G>T (p.Glu114Ter) c.118G>T (p.Glu40Ter) c.353G>T (p.Gly118Val) | |
19 | g.41869198_41869199delinsGA | CA2336668920 | RPS19 | c.340_341delinsGA (p.Glu114=) c.118_119delinsGA (p.Glu40=) c.353_354delinsGA (p.Gly118=) | |
19 | g.41869199A>C | CA406030586 | RPS19 | c.341A>C (p.Glu114Ala) c.119A>C (p.Glu40Ala) c.354A>C (p.Gly118=) | |
19 | g.41869199A>G | CA406030587 | RPS19 | c.341A>G (p.Glu114Gly) c.119A>G (p.Glu40Gly) c.354A>G (p.Gly118=) | |
19 | g.41869199A>T | CA406030588 | RPS19 | c.341A>T (p.Glu114Val) c.119A>T (p.Glu40Val) c.354A>T (p.Gly118=) | |
19 | g.41869201_41869202dup | CA2695228831 | RPS19 | c.343_344dup (p.Asp116ArgfsTer9) c.121_122dup (p.Asp42ArgfsTer9) c.356_357dup (p.Gly120LysfsTer?) | |
19 | g.41869202del | CA633185009 | RPS19 | c.344del (p.Lys115ArgfsTer9) c.122del (p.Lys41ArgfsTer9) c.357del (p.Gly120AspfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41869200A>C | CA406030589 | RPS19 | c.342A>C (p.Glu114Asp) c.120A>C (p.Glu40Asp) c.355A>C (p.Lys119Gln) | gnomAD v4 |
19 | g.41869200A>G | CA507576403 | RPS19 | c.342A>G (p.Glu114=) c.120A>G (p.Glu40=) c.355A>G (p.Lys119Glu) | ClinVar |
19 | g.41869200A>T | CA406030590 | RPS19 | c.342A>T (p.Glu114Asp) c.120A>T (p.Glu40Asp) c.355A>T (p.Lys119Ter) | |
19 | g.41869201A>C | CA406030591 | RPS19 | c.343A>C (p.Lys115Gln) c.121A>C (p.Lys41Gln) c.356A>C (p.Lys119Thr) | |
19 | g.41869201A>G | CA406030592 | RPS19 | c.343A>G (p.Lys115Glu) c.121A>G (p.Lys41Glu) c.356A>G (p.Lys119Arg) | |
19 | g.41869201A>T | CA406030593 | RPS19 | c.343A>T (p.Lys115Ter) c.121A>T (p.Lys41Ter) c.356A>T (p.Lys119Ile) | |
19 | g.41869202A>C | CA406030594 | RPS19 | c.344A>C (p.Lys115Thr) c.122A>C (p.Lys41Thr) c.357A>C (p.Lys119Asn) | |
19 | g.41869202A>G | CA406030595 | RPS19 | c.344A>G (p.Lys115Arg) c.122A>G (p.Lys41Arg) c.357A>G (p.Lys119=) | gnomAD v4 |
19 | g.41869202A>T | CA406030596 | RPS19 | c.344A>T (p.Lys115Met) c.122A>T (p.Lys41Met) c.357A>T (p.Lys119Asn) | |
19 | g.41869203G>A | CA507576404 | RPS19 | c.345G>A (p.Lys115=) c.123G>A (p.Lys41=) c.358G>A (p.Gly120Arg) | dbSNP gnomAD v4 |
19 | g.41869203G>C | CA406030598 | RPS19 | c.345G>C (p.Lys115Asn) c.123G>C (p.Lys41Asn) c.358G>C (p.Gly120Arg) | |
19 | g.41869203G= | CA2336668921 | RPS19 | c.345G= (p.Lys115=) c.123G= (p.Lys41=) c.358G= (p.Gly120=) | |
19 | g.41869203G>T | CA406030597 | RPS19 | c.345G>T (p.Lys115Asn) c.123G>T (p.Lys41Asn) c.358G>T (p.Gly120Ter) | gnomAD v4 |
19 | g.41869204G>A | CA406030599 | RPS19 | c.346G>A (p.Asp116Asn) c.124G>A (p.Asp42Asn) c.359G>A (p.Gly120Glu) | |
19 | g.41869204G>C | CA406030600 | RPS19 | c.346G>C (p.Asp116His) c.124G>C (p.Asp42His) c.359G>C (p.Gly120Ala) | |
19 | g.41869204G>T | CA406030601 | RPS19 | c.346G>T (p.Asp116Tyr) c.124G>T (p.Asp42Tyr) c.359G>T (p.Gly120Val) | |
19 | g.41869205del | CA2580097300 | RPS19 | c.347del (p.Asp116AlafsTer8) c.125del (p.Asp42AlafsTer8) c.360del (p.Pro121GlnfsTer?) | ClinVar |
19 | g.41869205A= | CA2336668922 | RPS19 | c.347A= (p.Asp116=) c.125A= (p.Asp42=) c.360A= (p.Gly120=) | |
19 | g.41869205A>C | CA406030602 | RPS19 | c.347A>C (p.Asp116Ala) c.125A>C (p.Asp42Ala) c.360A>C (p.Gly120=) | |
19 | g.41869205A>G | CA406030603 | RPS19 | c.347A>G (p.Asp116Gly) c.125A>G (p.Asp42Gly) c.360A>G (p.Gly120=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41869205A>T | CA406030604 | RPS19 | c.347A>T (p.Asp116Val) c.125A>T (p.Asp42Val) c.360A>T (p.Gly120=) | |
19 | g.41869206C>A | CA406030605 | RPS19 | c.348C>A (p.Asp116Glu) c.126C>A (p.Asp42Glu) c.361C>A (p.Pro121Thr) | |
19 | g.41869206C>G | CA406030606 | RPS19 | c.348C>G (p.Asp116Glu) c.126C>G (p.Asp42Glu) c.361C>G (p.Pro121Ala) | |
19 | g.41869206C>T | CA507576405 | RPS19 | c.348C>T (p.Asp116=) c.126C>T (p.Asp42=) c.361C>T (p.Pro121Ser) | gnomAD v4 |
19 | g.41869207C>A | CA406030607 | RPS19 | c.349C>A (p.Gln117Lys) c.127C>A (p.Gln43Lys) c.362C>A (p.Pro121Gln) | |
19 | g.41869207C= | CA2336668923 | RPS19 | c.349C= (p.Gln117=) c.127C= (p.Gln43=) c.362C= (p.Pro121=) | |
19 | g.41869207C>G | CA406030608 | RPS19 | c.349C>G (p.Gln117Glu) c.127C>G (p.Gln43Glu) c.362C>G (p.Pro121Arg) | dbSNP |
19 | g.41869207C>T | CA406030609 | RPS19 | c.349C>T (p.Gln117Ter) c.127C>T (p.Gln43Ter) c.362C>T (p.Pro121Leu) | |
19 | g.41869208A>C | CA406030610 | RPS19 | c.350A>C (p.Gln117Pro) c.128A>C (p.Gln43Pro) c.363A>C (p.Pro121=) | |
19 | g.41869208A>G | CA406030611 | RPS19 | c.350A>G (p.Gln117Arg) c.128A>G (p.Gln43Arg) c.363A>G (p.Pro121=) | |
19 | g.41869208A>T | CA406030612 | RPS19 | c.350A>T (p.Gln117Leu) c.128A>T (p.Gln43Leu) c.363A>T (p.Pro121=) | |
19 | g.41869209A>C | CA406030613 | RPS19 | c.351A>C (p.Gln117His) c.129A>C (p.Gln43His) c.364A>C (p.Arg122=) | |
19 | g.41869209A>G | CA507576406 | RPS19 | c.351A>G (p.Gln117=) c.129A>G (p.Gln43=) c.364A>G (p.Arg122Gly) | ClinVar COSMIC |
19 | g.41869209A>T | CA406030614 | RPS19 | c.351A>T (p.Gln117His) c.129A>T (p.Gln43His) c.364A>T (p.Arg122Ter) | gnomAD v4 |
19 | g.41869210G>A | CA406030615 | RPS19 | c.352G>A (p.Asp118Asn) c.130G>A (p.Asp44Asn) c.365G>A (p.Arg122Lys) | COSMIC |
19 | g.41869210G>C | CA406030616 | RPS19 | c.352G>C (p.Asp118His) c.130G>C (p.Asp44His) c.365G>C (p.Arg122Thr) | |
19 | g.41869210G>T | CA406030617 | RPS19 | c.352G>T (p.Asp118Tyr) c.130G>T (p.Asp44Tyr) c.365G>T (p.Arg122Ile) | |
19 | g.41869211A>C | CA406030618 | RPS19 | c.353A>C (p.Asp118Ala) c.131A>C (p.Asp44Ala) c.366A>C (p.Arg122Ser) | |
19 | g.41869211A>G | CA406030619 | RPS19 | c.353A>G (p.Asp118Gly) c.131A>G (p.Asp44Gly) c.366A>G (p.Arg122=) | ClinVar |
19 | g.41869211A>T | CA406030620 | RPS19 | c.353A>T (p.Asp118Val) c.131A>T (p.Asp44Val) c.366A>T (p.Arg122Ser) | |
19 | g.41869212T>A | CA9465371 | RPS19 | c.354T>A (p.Asp118Glu) c.132T>A (p.Asp44Glu) c.367T>A (p.Trp123Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41869212T>C | CA507576407 | RPS19 | c.354T>C (p.Asp118=) c.132T>C (p.Asp44=) c.367T>C (p.Trp123Arg) | |
19 | g.41869212T>G | CA406030621 | RPS19 | c.354T>G (p.Asp118Glu) c.132T>G (p.Asp44Glu) c.367T>G (p.Trp123Gly) | |
19 | g.41869212T= | CA2336668924 | RPS19 | c.354T= (p.Asp118=) c.132T= (p.Asp44=) c.367T= (p.Trp123=) | |
19 | g.41869213G>A | CA406030622 | RPS19 | c.355G>A (p.Gly119Ser) c.133G>A (p.Gly45Ser) c.368G>A (p.Trp123Ter) | |
19 | g.41869213G>C | CA406030623 | RPS19 | c.355G>C (p.Gly119Arg) c.133G>C (p.Gly45Arg) c.368G>C (p.Trp123Ser) | |
19 | g.41869213G>T | CA406030624 | RPS19 | c.355G>T (p.Gly119Cys) c.133G>T (p.Gly45Cys) c.368G>T (p.Trp123Leu) | |
19 | g.41869215dup | CA2695228832 | RPS19 | c.356+1dup c.134+1dup c.369+1dup | |
19 | g.41869214G>A | CA406030625 | RPS19 | c.356G>A (p.Gly119Asp) c.134G>A (p.Gly45Asp) c.369G>A (p.Trp123Ter) | gnomAD v4 |
19 | g.41869214G>C | CA406030626 | RPS19 | c.356G>C (p.Gly119Ala) c.134G>C (p.Gly45Ala) c.369G>C (p.Trp123Cys) | |
19 | g.41869214G>T | CA406030627 | RPS19 | c.356G>T (p.Gly119Val) c.134G>T (p.Gly45Val) c.369G>T (p.Trp123Cys) | gnomAD v4 |
19 | g.41869214_41869215insCGGCC | CA2585348955 | RPS19 | c.356_356+1insCGGCC (n.356_356+1insCGGCC) c.134_134+1insCGGCC (n.134_134+1insCGGCC) c.369_369+1insCGGCC (n.369_369+1insCGGCC) | gnomAD v4 |
19 | g.41869214_41869215insCGGCCGCAAACTGACACCTCAGGGACAAA | CA2735985752 | RPS19 | c.356_356+1insCGGCCGCAAACTGACACCTCAGGGACAAA (n.356_356+1insCGGCCGCAAACTGACACCTCAGGGACAAA) c.134_134+1insCGGCCGCAAACTGACACCTCAGGGACAAA (n.134_134+1insCGGCCGCAAACTGACACCTCAGGGACAAA) c.369_369+1insCGGCCGCAAACTGACACCTCAGGGACAAA (n.369_369+1insCGGCCGCAAACTGACACCTCAGGGACAAA) | dbSNP |
19 | g.41869215G>A | CA406030628 | RPS19 | c.356+1G>A (n.356+1G>A) c.134+1G>A (n.134+1G>A) c.369+1G>A (n.369+1G>A) | ClinVar dbSNP |
19 | g.41869215G>C | CA406030630 | RPS19 | c.356+1G>C (n.356+1G>C) c.134+1G>C (n.134+1G>C) c.369+1G>C (n.369+1G>C) | dbSNP |
19 | g.41869215G= | CA2336668925 | RPS19 | c.356+1G= (n.356+1G=) c.134+1G= (n.134+1G=) c.369+1G= (n.369+1G=) | |
19 | g.41869215G>T | CA406030629 | RPS19 | c.356+1G>T (n.356+1G>T) c.134+1G>T (n.134+1G>T) c.369+1G>T (n.369+1G>T) | |
19 | g.41869216T>A | CA406030631 | RPS19 | c.356+2T>A (n.356+2T>A) c.134+2T>A (n.134+2T>A) c.369+2T>A (n.369+2T>A) | |
19 | g.41869216T>C | CA406030632 | RPS19 | c.356+2T>C (n.356+2T>C) c.134+2T>C (n.134+2T>C) c.369+2T>C (n.369+2T>C) | gnomAD v4 |
19 | g.41869216T>G | CA406030633 | RPS19 | c.356+2T>G (n.356+2T>G) c.134+2T>G (n.134+2T>G) c.369+2T>G (n.369+2T>G) | |
19 | g.41869217A= | CA2336668926 | RPS19 | c.356+3A= (n.356+3A=) c.134+3A= (n.134+3A=) c.369+3A= (n.369+3A=) | |
19 | g.41869217A>C | CA645372649 | RPS19 | c.356+3A>C (n.356+3A>C) c.134+3A>C (n.134+3A>C) c.369+3A>C (n.369+3A>C) | ClinVar dbSNP |
19 | g.41869219G>A | CA2739276842 | RPS19 | c.356+5G>A (n.356+5G>A) c.134+5G>A (n.134+5G>A) c.369+5G>A (n.369+5G>A) | ClinVar |
19 | g.41869220C>A | CA2585348956 | RPS19 | c.356+6C>A (n.356+6C>A) c.134+6C>A (n.134+6C>A) c.369+6C>A (n.369+6C>A) | gnomAD v4 |
19 | g.41869220C>T | CA2585348957 | RPS19 | c.356+6C>T (n.356+6C>T) c.134+6C>T (n.134+6C>T) c.369+6C>T (n.369+6C>T) | gnomAD v4 |
19 | g.41869221del | CA2576795726 | RPS19 | c.356+7del (n.356+7del) c.134+7del (n.134+7del) c.369+7del (n.369+7del) | |
19 | g.41869222G>A | CA2585348959 | RPS19 | c.356+8G>A (n.356+8G>A) c.134+8G>A (n.134+8G>A) c.369+8G>A (n.369+8G>A) | gnomAD v4 |
19 | g.41869222G>T | CA2585348960 | RPS19 | c.356+8G>T (n.356+8G>T) c.134+8G>T (n.134+8G>T) c.369+8G>T (n.369+8G>T) | gnomAD v4 |
19 | g.41869224dup | CA2839176304 | RPS19 | c.356+10dup (n.356+10dup) c.134+10dup (n.134+10dup) c.369+10dup (n.369+10dup) | |
19 | g.41869224del | CA2585348958 | RPS19 | c.356+10del (n.356+10del) c.134+10del (n.134+10del) c.369+10del (n.369+10del) | gnomAD v4 |
19 | g.41869223G>A | CA308568318 | RPS19 | c.356+9G>A (n.356+9G>A) c.134+9G>A (n.134+9G>A) c.369+9G>A (n.369+9G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41869223G= | CA2336668927 | RPS19 | c.356+9G= (n.356+9G=) c.134+9G= (n.134+9G=) c.369+9G= (n.369+9G=) | |
19 | g.41869223G>T | CA2585348961 | RPS19 | c.356+9G>T (n.356+9G>T) c.134+9G>T (n.134+9G>T) c.369+9G>T (n.369+9G>T) | gnomAD v4 |
19 | g.41869224G>A | CA9465372 | RPS19 | c.356+10G>A (n.356+10G>A) c.134+10G>A (n.134+10G>A) c.369+10G>A (n.369+10G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41869224G= | CA2336668928 | RPS19 | c.356+10G= (n.356+10G=) c.134+10G= (n.134+10G=) c.369+10G= (n.369+10G=) | |
19 | g.41869224G>T | CA882375290 | RPS19 | c.356+10G>T (n.356+10G>T) c.134+10G>T (n.134+10G>T) c.369+10G>T (n.369+10G>T) | dbSNP |
19 | g.41869225T>C | CA2336668929 | RPS19 | c.356+11T>C (n.356+11T>C) c.134+11T>C (n.134+11T>C) c.369+11T>C (n.369+11T>C) | dbSNP |
19 | g.41869225T>G | CA2814447566 | RPS19 | c.356+11T>G (n.356+11T>G) c.134+11T>G (n.134+11T>G) c.369+11T>G (n.369+11T>G) | |
19 | g.41869225T= | CA2336668930 | RPS19 | c.356+11T= (n.356+11T=) c.134+11T= (n.134+11T=) c.369+11T= (n.369+11T=) | |
19 | g.41869225dup | CA9465373 | RPS19 | c.356+11dup (n.356+11dup) c.134+11dup (n.134+11dup) c.369+11dup (n.369+11dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41869225_41869226delinsTA | CA2336668931 | RPS19 | c.356+11_356+12delinsTA (n.356+11_356+12delinsTA) c.134+11_134+12delinsTA (n.134+11_134+12delinsTA) c.369+11_369+12delinsTA (n.369+11_369+12delinsTA) | |
19 | g.41869226del | CA9465374 | RPS19 | c.356+12del (n.356+12del) c.134+12del (n.134+12del) c.369+12del (n.369+12del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41869226A= | CA2336668932 | RPS19 | c.356+12A= (n.356+12A=) c.134+12A= (n.134+12A=) c.369+12A= (n.369+12A=) | |
19 | g.41869226A>G | CA2580097301 | RPS19 | c.356+12A>G (n.356+12A>G) c.134+12A>G (n.134+12A>G) c.369+12A>G (n.369+12A>G) | ClinVar |
19 | g.41869226A>T | CA2585348963 | RPS19 | c.356+12A>T (n.356+12A>T) c.134+12A>T (n.134+12A>T) c.369+12A>T (n.369+12A>T) | gnomAD v4 |
19 | g.41869228_41869229del | CA2585348962 | RPS19 | c.356+14_356+15del (n.356+14_356+15del) c.134+14_134+15del (n.134+14_134+15del) c.369+14_369+15del (n.369+14_369+15del) | gnomAD v4 |
19 | g.41869227del | CA308568377 | RPS19 | c.356+13del (n.356+13del) c.134+13del (n.134+13del) c.369+13del (n.369+13del) | COSMIC COSMIC |
19 | g.41869227G>A | CA996008918 | RPS19 | c.356+13G>A (n.356+13G>A) c.134+13G>A (n.134+13G>A) c.369+13G>A (n.369+13G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41869227G>C | CA9465375 | RPS19 | c.356+13G>C (n.356+13G>C) c.134+13G>C (n.134+13G>C) c.369+13G>C (n.369+13G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41869227G= | CA2336668934 | RPS19 | c.356+13G= (n.356+13G=) c.134+13G= (n.134+13G=) c.369+13G= (n.369+13G=) | |
19 | g.41869227G>T | CA2580097302 | RPS19 | c.356+13G>T (n.356+13G>T) c.134+13G>T (n.134+13G>T) c.369+13G>T (n.369+13G>T) | ClinVar gnomAD v4 |
19 | g.41869227_41869228insGG | CA2585348964 | RPS19 | c.356+13_356+14insGG (n.356+13_356+14insGG) c.134+13_134+14insGG (n.134+13_134+14insGG) c.369+13_369+14insGG (n.369+13_369+14insGG) | gnomAD v4 |
19 | g.41869227dup | CA308568355 | RPS19 | c.356+13dup (n.356+13dup) c.134+13dup (n.134+13dup) c.369+13dup (n.369+13dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41869227_41869228delinsGA | CA2336668933 | RPS19 | c.356+13_356+14delinsGA (n.356+13_356+14delinsGA) c.134+13_134+14delinsGA (n.134+13_134+14delinsGA) c.369+13_369+14delinsGA (n.369+13_369+14delinsGA) | |
19 | g.41869228_41869230del | CA2585348965 | RPS19 | c.356+14_356+16del (n.356+14_356+16del) c.134+14_134+16del (n.134+14_134+16del) c.369+14_369+16del (n.369+14_369+16del) | gnomAD v4 |
19 | g.41869228del | CA882375300 | RPS19 | c.356+14del (n.356+14del) c.134+14del (n.134+14del) c.369+14del (n.369+14del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41869228A= | CA293101 | RPS19 | c.356+14A= (n.356+14A=) c.134+14A= (n.134+14A=) c.369+14A= (n.369+14A=) | |
19 | g.41869228A>C | CA9465377 | RPS19 | c.356+14A>C (n.356+14A>C) c.134+14A>C (n.134+14A>C) c.369+14A>C (n.369+14A>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41869228A>G | CA308568386 | RPS19 | c.356+14A>G (n.356+14A>G) c.134+14A>G (n.134+14A>G) c.369+14A>G (n.369+14A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41869228A>T | CA9465376 | RPS19 | c.356+14A>T (n.356+14A>T) c.134+14A>T (n.134+14A>T) c.369+14A>T (n.369+14A>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41869228delinsGG | CA920112610 | RPS19 | c.356+14delinsGG (n.356+14delinsGG) c.134+14delinsGG (n.134+14delinsGG) c.369+14delinsGG (n.369+14delinsGG) | ClinVar dbSNP |
19 | g.41869229G>A | CA882375305 | RPS19 | c.356+15G>A (n.356+15G>A) c.134+15G>A (n.134+15G>A) c.369+15G>A (n.369+15G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.41869229G>C | CA2576795727 | RPS19 | c.356+15G>C (n.356+15G>C) c.134+15G>C (n.134+15G>C) c.369+15G>C (n.369+15G>C) | gnomAD v4 |
19 | g.41869229G= | CA2336668935 | RPS19 | c.356+15G= (n.356+15G=) c.134+15G= (n.134+15G=) c.369+15G= (n.369+15G=) | |
19 | g.41869230G>A | CA2585348966 | RPS19 | c.356+16G>A (n.356+16G>A) c.134+16G>A (n.134+16G>A) c.369+16G>A (n.369+16G>A) | gnomAD v4 |
19 | g.41869232G>A | CA9465379 | RPS19 | c.356+18G>A (n.356+18G>A) c.134+18G>A (n.134+18G>A) c.369+18G>A (n.369+18G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41869232G>C | CA9465378 | RPS19 | c.356+18G>C (n.356+18G>C) c.134+18G>C (n.134+18G>C) c.369+18G>C (n.369+18G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41869232G= | CA2336668936 | RPS19 | c.356+18G= (n.356+18G=) c.134+18G= (n.134+18G=) c.369+18G= (n.369+18G=) | |
19 | g.41869232G>T | CA9465380 | RPS19 | c.356+18G>T (n.356+18G>T) c.134+18G>T (n.134+18G>T) c.369+18G>T (n.369+18G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41869232_41869233insC | CA2336668937 | RPS19 | c.356+18_356+19insC (n.356+18_356+19insC) c.134+18_134+19insC (n.134+18_134+19insC) c.369+18_369+19insC (n.369+18_369+19insC) | dbSNP |
19 | g.41869233G>A | CA9465381 | RPS19 | c.356+19G>A (n.356+19G>A) c.134+19G>A (n.134+19G>A) c.369+19G>A (n.369+19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41869233G= | CA2336668938 | RPS19 | c.356+19G= (n.356+19G=) c.134+19G= (n.134+19G=) c.369+19G= (n.369+19G=) | |
19 | g.41869233_41869234insA | CA2585348967 | RPS19 | c.356+19_356+20insA (n.356+19_356+20insA) c.134+19_134+20insA (n.134+19_134+20insA) c.369+19_369+20insA (n.369+19_369+20insA) | gnomAD v4 |
19 | g.41869234C>A | CA2585348968 | RPS19 | c.356+20C>A (n.356+20C>A) c.134+20C>A (n.134+20C>A) c.369+20C>A (n.369+20C>A) | gnomAD v4 |
19 | g.41869235T>A | CA2585348969 | RPS19 | c.356+21T>A (n.356+21T>A) c.134+21T>A (n.134+21T>A) c.369+21T>A (n.369+21T>A) | gnomAD v4 |
19 | g.41869235T>C | CA2585348970 | RPS19 | c.356+21T>C (n.356+21T>C) c.134+21T>C (n.134+21T>C) c.369+21T>C (n.369+21T>C) | gnomAD v4 |
19 | g.41869236G>A | CA2585348971 | RPS19 | c.356+22G>A (n.356+22G>A) c.134+22G>A (n.134+22G>A) c.369+22G>A (n.369+22G>A) | gnomAD v4 |
19 | g.41869236G>T | CA2585348972 | RPS19 | c.356+22G>T (n.356+22G>T) c.134+22G>T (n.134+22G>T) c.369+22G>T (n.369+22G>T) | gnomAD v4 |
19 | g.41869237C>A | CA2585348973 | RPS19 | c.356+23C>A (n.356+23C>A) c.134+23C>A (n.134+23C>A) c.369+23C>A (n.369+23C>A) | gnomAD v4 |
19 | g.41869238A= | CA2336668939 | RPS19 | c.356+24A= (n.356+24A=) c.134+24A= (n.134+24A=) c.369+24A= (n.369+24A=) | |
19 | g.41869238A>G | CA9465382 | RPS19 | c.356+24A>G (n.356+24A>G) c.134+24A>G (n.134+24A>G) c.369+24A>G (n.369+24A>G) | dbSNP ExAC gnomAD v2 |
19 | g.41869239T>C | CA9465383 | RPS19 | c.356+25T>C (n.356+25T>C) c.134+25T>C (n.134+25T>C) c.369+25T>C (n.369+25T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41869239T>G | CA2585348974 | RPS19 | c.356+25T>G (n.356+25T>G) c.134+25T>G (n.134+25T>G) c.369+25T>G (n.369+25T>G) | gnomAD v4 |
19 | g.41869239T= | CA2336668940 | RPS19 | c.356+25T= (n.356+25T=) c.134+25T= (n.134+25T=) c.369+25T= (n.369+25T=) | |
19 | g.41869241G>A | CA2585348975 | RPS19 | c.356+27G>A (n.356+27G>A) c.134+27G>A (n.134+27G>A) c.369+27G>A (n.369+27G>A) | gnomAD v4 |
19 | g.41869242A>T | CA2585348976 | RPS19 | c.356+28A>T (n.356+28A>T) c.134+28A>T (n.134+28A>T) c.369+28A>T (n.369+28A>T) | gnomAD v4 |
19 | g.41869243T>A | CA882375310 | RPS19 | c.356+29T>A (n.356+29T>A) c.134+29T>A (n.134+29T>A) c.369+29T>A (n.369+29T>A) | dbSNP |
19 | g.41869243T>C | CA9465384 | RPS19 | c.356+29T>C (n.356+29T>C) c.134+29T>C (n.134+29T>C) c.369+29T>C (n.369+29T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41869243T= | CA2336668941 | RPS19 | c.356+29T= (n.356+29T=) c.134+29T= (n.134+29T=) c.369+29T= (n.369+29T=) | |
19 | g.41869244G>A | CA2336668944 | RPS19 | c.356+30G>A (n.356+30G>A) c.134+30G>A (n.134+30G>A) c.369+30G>A (n.369+30G>A) | dbSNP gnomAD v4 |
19 | g.41869244G= | CA2336668943 | RPS19 | c.356+30G= (n.356+30G=) c.134+30G= (n.134+30G=) c.369+30G= (n.369+30G=) | |
19 | g.41869245dup | CA2336668942 | RPS19 | c.356+31dup (n.356+31dup) c.134+31dup (n.134+31dup) c.369+31dup (n.369+31dup) | dbSNP |
19 | g.41869245G>A | CA2336668946 | RPS19 | c.356+31G>A (n.356+31G>A) c.134+31G>A (n.134+31G>A) c.369+31G>A (n.369+31G>A) | dbSNP gnomAD v4 |
19 | g.41869245G= | CA2336668945 | RPS19 | c.356+31G= (n.356+31G=) c.134+31G= (n.134+31G=) c.369+31G= (n.369+31G=) | |
19 | g.41869245G>T | CA2585348977 | RPS19 | c.356+31G>T (n.356+31G>T) c.134+31G>T (n.134+31G>T) c.369+31G>T (n.369+31G>T) | gnomAD v4 |
19 | g.41869246A>G | CA2585348978 | RPS19 | c.356+32A>G (n.356+32A>G) c.134+32A>G (n.134+32A>G) c.369+32A>G (n.369+32A>G) | gnomAD v4 |
19 | g.41869247G>A | CA2585348979 | RPS19 | c.356+33G>A (n.356+33G>A) c.134+33G>A (n.134+33G>A) c.369+33G>A (n.369+33G>A) | gnomAD v4 |
19 | g.41869248T>C | CA633185010 | RPS19 | c.356+34T>C (n.356+34T>C) c.134+34T>C (n.134+34T>C) c.369+34T>C (n.369+34T>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41869248T>G | CA2814447567 | RPS19 | c.356+34T>G (n.356+34T>G) c.134+34T>G (n.134+34T>G) c.369+34T>G (n.369+34T>G) | |
19 | g.41869248T= | CA2336668947 | RPS19 | c.356+34T= (n.356+34T=) c.134+34T= (n.134+34T=) c.369+34T= (n.369+34T=) | |
19 | g.41869249del | CA2585348980 | RPS19 | c.356+35del (n.356+35del) c.134+35del (n.134+35del) c.369+35del (n.369+35del) | gnomAD v4 |
19 | g.41869249A= | CA2336668948 | RPS19 | c.356+35A= (n.356+35A=) c.134+35A= (n.134+35A=) c.369+35A= (n.369+35A=) | |
19 | g.41869249A>G | CA996008931 | RPS19 | c.356+35A>G (n.356+35A>G) c.134+35A>G (n.134+35A>G) c.369+35A>G (n.369+35A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41869250G>A | CA9465386 | RPS19 | c.356+36G>A (n.356+36G>A) c.134+36G>A (n.134+36G>A) c.369+36G>A (n.369+36G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41869250G= | CA2336668949 | RPS19 | c.356+36G= (n.356+36G=) c.134+36G= (n.134+36G=) c.369+36G= (n.369+36G=) | |
19 | g.41869250G>T | CA9465385 | RPS19 | c.356+36G>T (n.356+36G>T) c.134+36G>T (n.134+36G>T) c.369+36G>T (n.369+36G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41869251C>A | CA2585348981 | RPS19 | c.356+37C>A (n.356+37C>A) c.134+37C>A (n.134+37C>A) c.369+37C>A (n.369+37C>A) | gnomAD v4 |
19 | g.41869251C>G | CA2585348982 | RPS19 | c.356+37C>G (n.356+37C>G) c.134+37C>G (n.134+37C>G) c.369+37C>G (n.369+37C>G) | gnomAD v4 |
19 | g.41869251C>T | CA2585348983 | RPS19 | c.356+37C>T (n.356+37C>T) c.134+37C>T (n.134+37C>T) c.369+37C>T (n.369+37C>T) | gnomAD v4 |
19 | g.41869252C>A | CA2585348984 | RPS19 | c.356+38C>A (n.356+38C>A) c.134+38C>A (n.134+38C>A) c.369+38C>A (n.369+38C>A) | gnomAD v4 |
19 | g.41869253T>C | CA2585348985 | RPS19 | c.356+39T>C (n.356+39T>C) c.134+39T>C (n.134+39T>C) c.369+39T>C (n.369+39T>C) | gnomAD v4 |